Novel pathology could improve diagnosis and treatment of Huntington's
and other diseases

Date:
June 30, 2020
Source:
University of Bristol
Summary:
Scientists have discovered a novel pathology that occurs in
several human neurodegenerative diseases, including Huntington's
disease. The article describes how SAFB1 expression occurs in both
spinocerebellar ataxias and Huntington's disease and may be a common
marker of these conditions, which have a similar genetic background.



FULL STORY ========================================================================== Bristol scientists have discovered a novel pathology that occurs in
several human neurodegenerative diseases, including Huntington's disease.


==========================================================================
The article, published in Brain Pathology, describes how SAFB1 expression occurs in both spinocerebellar ataxias and Huntington's disease and may
be a common marker of these conditions, which have a similar genetic background.

SAFB1 is an important protein controlling gene regulation in the
brain and is similar in structure to other proteins associated with neurodegenerative diseases of age. The team, from the University of
Bristol's Translational Health Sciences, wanted to find out if this
protein might be associated with certain neurodegenerative conditions.

The researchers analysed SAFB1 expression in the post-mortem brain tissue
of spinocerebellar ataxias (SCA's), Huntington's disease (HD), Multiple sclerosis (MS), Parkinson's disease patients and controls. They found that
SAFB becomes abnormally expressed in the nerve cells of brain regions associated with SCA and HD. Both of these conditions are associated
with a specific pathology, called a polyglutamine expansion (an amino
acid repeat), which only occurs in SCAs and HD. The same pathology was therefore not seen in control Parkinson's disease or multiple sclerosis.

"These novel findings highlight a previously unknown mechanism causing
disease which, importantly, suggests SAFB1 may be a diagnostic marker
for polyglutamine expansion diseases, such as HD said lead author, James
Uney, Professor of Molecular Neuroscience at the University of Bristol.

"We were also able to demonstrate how SAFB1 binds the SCA1 gene with the disease causing polyglutamine expansion (which causes spinocerebellar
ataxia 1). As well as identifying a possible diagnostic marker, these
findings open up the possibility of developing new therapeutic treatments
for these rare but devastating neurodegenerative diseases.

"The next step is to establish whether inhibiting SAFB1 expression
protects patients." Professor Uney said there was scope in the future to broaden the study to include other diseases, such as Alzheimer's, disease.


========================================================================== Story Source: Materials provided by University_of_Bristol. Note: Content
may be edited for style and length.


========================================================================== Journal Reference:
1. Nicola Buckner, Kevin C. Kemp, Helen L. Scott, Gongyu Shi, Caroline
Rivers, Andriana Gialeli, Liang‐Fong Wong, Oscar
Cordero‐LLana, Nicholas Allen, Alastair Wilkins, James
B. Uney.

Abnormal scaffold attachment factor 1 expression and localisation
in spinocerebellar ataxias and huntington's chorea. Brain Pathology,
2020; DOI: 10.1111/bpa.12872 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2020/06/200630103612.htm

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